Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SCN11A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38921112:38921112(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.856A>T
AA Mutation p.Arg286Trp(p.R286W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38847215:38847215(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4855G>A
AA Mutation p.Gly1619Ser(p.G1619S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38847008:38847008(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748885752
CDS Mutation c.5062G>A
AA Mutation p.Ala1688Thr(p.A1688T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38904011:38904011(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201421435
CDS Mutation c.1696G>A
AA Mutation p.Val566Ile(p.V566I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38919979:38919979(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.915A>C
AA Mutation p.Glu305Asp(p.E305D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38847592:38847592(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374311646
CDS Mutation c.4478C>T
AA Mutation p.Ser1493Leu(p.S1493L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38894912:38894912(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2456G>A
AA Mutation p.Arg819Lys(p.R819K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38846916:38846916(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5154G>T
AA Mutation p.Lys1718Asn(p.K1718N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38871570:38871570(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3634G>T
AA Mutation p.Asp1212Tyr(p.D1212Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38921226:38921226(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764550088
CDS Mutation c.742C>T
AA Mutation p.Arg248Cys(p.R248C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38885356:38885356(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2996T>A
AA Mutation p.Leu999His(p.L999H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38910154:38910154(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1013A>C
AA Mutation p.Asn338Thr(p.N338T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38871617:38871617(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745559210
CDS Mutation c.3587G>A
AA Mutation p.Gly1196Glu(p.G1196E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38872264:38872264(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3424G>A
AA Mutation p.Glu1142Lys(p.E1142K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38897026:38897026(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369499148
CDS Mutation c.2222C>T
AA Mutation p.Pro741Leu(p.P741L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38847175:38847175(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4895A>C
AA Mutation p.Lys1632Thr(p.K1632T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38950313:38950313(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.50G>A
AA Mutation p.Arg17His(p.R17H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38896969:38896969(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2279T>A
AA Mutation p.Val760Glu(p.V760E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38883310:38883310(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3142A>C
AA Mutation p.Thr1048Pro(p.T1048P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38894916:38894916(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2452G>A
AA Mutation p.Glu818Lys(p.E818K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38903870:38903870(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1837A>C
AA Mutation p.Asn613His(p.N613H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38871584:38871584(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3620G>T
AA Mutation p.Cys1207Phe(p.C1207F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38850736:38850736(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4072C>A
AA Mutation p.Leu1358Ile(p.L1358I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38894846:38894846(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779067124
CDS Mutation c.2522G>A
AA Mutation p.Arg841Gln(p.R841Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38919985:38919985(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.909G>T
AA Mutation p.Lys303Asn(p.K303N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38847194:38847194(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4876T>G
AA Mutation p.Phe1626Val(p.F1626V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38950106:38950106(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.257G>A
AA Mutation p.Arg86Gln(p.R86Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38850624:38850624(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4184A>C
AA Mutation p.Lys1395Thr(p.K1395T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38897137:38897137(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2111T>C
AA Mutation p.Leu704Pro(p.L704P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38847019:38847019(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370826330
CDS Mutation c.5051A>T
AA Mutation p.Asp1684Val(p.D1684V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38847562:38847562(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4508T>C
AA Mutation p.Leu1503Pro(p.L1503P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38867407:38867407(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs536925812
CDS Mutation c.3865G>A
AA Mutation p.Val1289Ile(p.V1289I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence synonymous_variant
Transcription ID ENST00000302328
Start 38945470:38945470(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.429C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 34
Mutation Consequence synonymous_variant
Transcription ID ENST00000302328
Start 38894608:38894608(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764717266
CDS Mutation c.2760G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 35
Mutation Consequence synonymous_variant
Transcription ID ENST00000302328
Start 38921086:38921086(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761791422
CDS Mutation c.882G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 36
Mutation Consequence synonymous_variant
Transcription ID ENST00000302328
Start 38847348:38847348(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4722C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 37
Mutation Consequence synonymous_variant
Transcription ID ENST00000302328
Start 38847690:38847690(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4380G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000302328
Start 38908011:38908011(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1411T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000302328
Start 38950210:38950210(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.153G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence frameshift_variant
Transcription ID ENST00000302328
Start 38897079:38897079(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2169delT
AA Mutation p.Phe723LeufsTer37(p.F723Lfs*37)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 41
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000302328
Start 38907950:38907950(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs765136101
CDS Mutation c.1472delA
AA Mutation p.Lys491SerfsTer5(p.K491Sfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 42
Mutation Consequence frameshift_variant
Transcription ID ENST00000302328
Start 38908052:38908052(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1370delA
AA Mutation p.Lys457ArgfsTer15(p.K457Rfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 43
Mutation Consequence stop_gained
Transcription ID ENST00000302328
Start 38908005:38908005(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1417G>T
AA Mutation p.Glu473Ter(p.E473*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence stop_gained
Transcription ID ENST00000302328
Start 38950128:38950128(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.235G>T
AA Mutation p.Glu79Ter(p.E79*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence stop_gained
Transcription ID ENST00000302328
Start 38846837:38846837(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747783198
CDS Mutation c.5233C>T
AA Mutation p.Arg1745Ter(p.R1745*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000302328
Start 38907949:38907950(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1472dupA
AA Mutation p.Pro492AlafsTer20(p.P492Afs*20)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> SCN11A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38886129:38886129(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs562379429
CDS Mutation c.2945G>A
AA Mutation p.Arg982Gln(p.R982Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38950106:38950106(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.257G>A
AA Mutation p.Arg86Gln(p.R86Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38903887:38903887(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1820A>C
AA Mutation p.Lys607Thr(p.K607T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38897078:38897078(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2170G>T
AA Mutation p.Gly724Cys(p.G724C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38897079:38897079(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2169T>G
AA Mutation p.Phe723Leu(p.F723L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38847527:38847527(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4543G>T
AA Mutation p.Gly1515Cys(p.G1515C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38885373:38885373(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2979A>C
AA Mutation p.Glu993Asp(p.E993D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38909178:38909178(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1118G>T
AA Mutation p.Gly373Val(p.G373V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38945445:38945445(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.454A>G
AA Mutation p.Lys152Glu(p.K152E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38926845:38926845(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs554286806
CDS Mutation c.575G>A
AA Mutation p.Arg192Gln(p.R192Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000302328
Start 38904011:38904011(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201421435
CDS Mutation c.1696G>A
AA Mutation p.Val566Ile(p.V566I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000302328
Start 38847093:38847093(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150087925
CDS Mutation c.4977C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000302328
Start 38850728:38850728(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752386014
CDS Mutation c.4080C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence stop_gained
Transcription ID ENST00000302328
Start 38886130:38886130(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145290679
CDS Mutation c.2944C>T
AA Mutation p.Arg982Ter(p.R982*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence stop_gained
Transcription ID ENST00000302328
Start 38886181:38886181(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2893G>T
AA Mutation p.Glu965Ter(p.E965*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence splice_donor_variant
Transcription ID ENST00000302328
Start 38926802:38926802(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754708932
CDS Mutation c.617+1G>A
Mutation Classification Splice_Site
Feature Type Transcript